A 25 year old woman presented to our institution with increasing difficulty in swallowing, talking, and walking, which resulted in her being virtually mute, wheelchair bound, and perpetually drooling. She had presented to another institution two and a half years before with worsening episodes of headache and cramp in both feet. This had progressed to a generalised weakness of her entire body, in addition to impaired speech and problems with motor coordination.

Clinical examination showed cog wheel rigidity and a generalised jerky dystonic tremor, with occasional hemiballismic movement of the arms. The upper limb reflexes and power were normal. Bilateral wasting of the quadriceps muscles was apparent, with generalised brisk reflexes and severe spasticity of the lower limbs. Her speech was slurred but examination of the cranial nerve was otherwise unremarkable. Bilateral corneal discoloration was noted.

The patient’s full blood count, renal biochemical profile, and liver biochemical profile were largely normal, although alanine aminotransferase was slightly raised at 35 IU/l (normal range 10-35), as was alkaline phosphatase at 374 U/l (35-104). Magnetic resonance imaging (MRI) of the brain was performed at the time of presentation (fig 1)⇓.